A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266435



Internal ID22279984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3458139..3520529hg38UCSC Ensembl
Outerchr1:3374703..3437093hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg384851
hg194851
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226764
Supporting Variants
SamplesNA19239
Known GenesARHGEF16, MEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266435
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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